Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

BACKGROUND: Congenital afibrinogenemia (OMIM #202400) is a rare coagulation disorder that was first described in 1920. It is transmitted as an autosomal recessive trait that is characterized by absent levels of fibrinogen (factor I) in plasma. Consanguinity in Pakistan and its neighboring countries...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Thromb J
Main Authors: Naz, Arshi, Biswas, Arijit, Khan, Tehmina Nafees, Goodeve, Anne, Ahmed, Nisar, Saqlain, Nazish, Ahmed, Shariq, Ujjan, Ikram Din, Shamsi, Tahir S, Oldenburg, Johannes
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5594472/
https://ncbi.nlm.nih.gov/pubmed/28912669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12959-017-0143-3
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker